International Journal of Cardiovascular Sciences. 23/ago/2024;37:e20240007.
Pathogenic BAG3 Variant in Peripartum Cardiomyopathy and Significant Family History of Sudden Death
Antonio Pedro Lima Costa Pereira
, Eduarda Vieira Rodrigues
, Eduardo Marinho Tassi
, Maria Angelica de Faria Domingues de Lima
, Fabio de Souza
Abstract
The BAG3 gene encodes the BAG3 protein, a multifunctional chaperone involved in proteostasis and protection of cardiomyocytes. Pathogenic BAG3 variants have previously been associated with dilated cardiomyopathy (DCM), including peripartum cardiomyopathy (PPCM). We present the case of a woman who complained of palpitations during the late postpartum period and was diagnosed with left ventricular dysfunction; genetic testing revealed a pathogenic variant of the BAG3 gene. Several cases of sudden death were noted in her family history. After 3 years of follow-up, ventricular function was significantly improved with regular cardiovascular medication, and no symptoms were reported. We emphasize the role of genetic testing in this case.
Palavras-chave: Dilated Cardiomyopathy; Peripartum Period; Sudden Death
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